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Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel
 
 

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Journal: Int. J. Mol. Sci., 2021
Volume: 22
Number: 2824

Article: Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders
Authors: by Jan H. Döring, Julian Schröter, Jerome Jüngling, Saskia Biskup, Kerstin A. Klotz, Thomas Bast, Tobias Dietel, G. Christoph Korenke, Sophie Christoph, Heiko Brennenstuhl, Guido Rubboli, Rikke S. Møller, Gaetan Lesca, Yves Chaix, Stefan Kölker, Georg F. Hoffmann, Johannes R. Lemke and Steffen Syrbe
Link: https://www.mdpi.com/1422-0067/22/6/2824

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